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Jaxson Update | 11.09.18

Occupational Therapy: 

Jaxson had his Occupational Therapy consult a couple weeks ago. The therapist recommended one hour therapy sessions twice a week, which looks like it’ll be on Monday and Thursday mornings. They will be focusing on mostly Sensory (SPD) with a side of Feeding and Fine Motor skills (as mentioned before). They want to strengthen his pincer grip as well.

Physical Therapy:

Jaxson had his Physical Therapy consult last Tuesday and the therapist was pleased with what she saw. She mentioned that he was at age for gross motor skills but was concerned with his feet. She felt that his ankles were extremely relaxed or loose. She recommended we see an Orthopedist to be fitted for AFO (ankle foot orthosis) to correct his feet and hopefully help with his balance. She wants to see him once a week for a few months to work on core and leg strength.

Other Therapies/Referrals:

We had to post-pone his ENT appointment because the referral fell through the cracks some how. The office got the referral from our pediatrician but the insurance didn’t. We finally received the boy’s medical records from the Naval Hospital in Pensacola. The lady handling their records here will be putting their information on a disc for us. I do have most of Jaxson’s referrals and genetic notes but I do not have the rest.

We are waiting to get in with the Neurologist, Sleep Center, Gastroenterologist, Ophthalmologist, and Genetics over in Raleigh.

Communication:

Jaxson has been babbling more and more. Mostly it sounds as if he’s saying JJ’s name, it’s so sweet. He usually says it the most when JJ is at school, I know he misses him a lot during the day. He was so use to JJ being home with us but now he is gone from 7:30 to 4:30 (such a long day!). He also says something that sounds like “da-da,” I guess this momma is chopped liver.

The Speech Therapist from CDSA (early steps) has me being more hands on with Jaxson as far as signs. However, when I ask him to do please, all done, and eat he does the sign for “more” or claps. They will be coming by on Friday next week to see how he’s responding to me teaching him.

Overall, he’s doing well!

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November 10, 2018
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My Blogger Recognition Award

I am in awe that Failure to Thrive No More has been nominated for the Blogger Recognition Award! My friend from Witte’s World has nominated me and it truly means the world to me. I’m thankful to be recognized by such a wonderful blogger like Linda! She has created an amazing support group at For the Love of Blogging [GO JOIN], writes amazing travel posts at Witte’s World, and has helped me on my journey of blogging.

Read more…

November 3, 2018
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DYRK1A Syndrome Awareness Day!

Hello friends!

As most of you know Jaxson has a condition called DYRK1A syndrome, and was diagnosed April of this year. Since his diagnosis we have found an awesome Support Group on Facebook! There are families from all over the globe on this support page, and currently we are sitting at about 205 families! That is AMAZING. With the new technology of genetic testing more and more families are getting long awaited answers for their children! Some have waited over 15 years to get answers!

Over 200 families!

Since joining this group I have become a member of their Work Group with a goal to become a Non Profit Organization. With this we established an Awareness Date, August 21st, which is significant because this syndrome is found within the 21st Chromosome.

Related Post: Telling Tuesday.

There was a Meet Up in July where many DYRK1A families came together to meet and celebrate with their warriors. There were a lot of guest speakers present as well, they are conducting research of our children to help us and others to understand DYRK1A better. DYRK1A is so new that there is not very much literature out there about it.

Here are some statistics from the new study that was conducted:

  • 98% had intellectual disabilities or global delays
  • 100% had speech delays
  • 100% had motor difficulties
  • 93% had microcephaly
  • 93% had feeding difficulties
  • 79% had vision abnormalities
  • 67% had seizures
  • 46% had an ASD diagnosis
  • 61% had stereotyped behaviors
  • 31% had anxious behaviors
  • 29% had hyperactive behaviors
  • 83% had behavioral differences
  • 60% had 6 or more symptoms including ASD
  • 76% had 6 or more symptoms including broader behavioral difficulties

-Thank you to the team from Bernier Lab for providing this information.

Below is an image from Simons VIP Connect with features and the genomic location of DYRK1A.

DYRK1A Features


About our DYRK1A Warriors:

For Awareness Day, I wanted to show the world that there are positives about our DYRK1A children. Positive you may ask? Many look at the negative when they learn about Jaxson and other children with DYRK1A and their condition. Our children are very, very happy! Despite everything they go through, all of the challenges, they are happy. I think that’s one of the reasons that makes this journey so worth while. Jaxson is goofy just like any other child, he loves to play with his big brother’s toy cars, he loves pancakes, he loves to be twirled around, and loves jamming to the movie Trolls just like his big brother. And if you talk to any other family they will tell you the same about their child.

Our children are fierce and determined. 

The Importance of Genetic Testing:

I’ve come across a few families who were having difficulties with getting their insurance to pay for genetic testing. I want to raise awareness of the benefits of having genetic testing done. Having genetic testing done can benefit the family because if it comes back positive they can start looking at prevention, monitoring, or treatment options. Jaxson has been in Physical Therapy since October of last year and it has done wonders for his development. He just recently started walking, unsteady but walking! Feeding Therapy has benefited him as well, before it would take him an hour to drink 2 ounces of milk! Now he’s drinking 5-6 ounces of milk in less than 5 to 10 minutes! We are in the process of getting an Occupational Therapist as well. Early intervention is definitely beneficial for our children, so why are these insurance companies denying genetic testing referrals?

Super Jaxson!

Jaxson hanging out in the kiddie pool!

Conclusion:

To conclude this, I ask that you help us raise awareness about DYRK1A. Help us let the world know how proud we are of our children and their accomplishments! Help us educate the world about DYRK1A and the importance of genetic testing!
Please join us on August 21st by adding our DYRK1A Syndrome frame to your Social Media photos!

Related Links:

DYRK1A Facebook

DYRK1A.org

Simons VIP Connect

August 19, 2018
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200 Strong

DYRK1A

As mentioned in my Telling Tuesday post, changes in the DYRK1A gene–located in the 21st Chromosome–have been linked to:

  • Intellectual Disabilities
  • Microcephaly
  • Speech and Language Impairment
  • Seizures
  • Autism

and more (DYRK1A, 2018)..

200 Strong

As of the beginning of July, we have reached 200 families with DYRK1A Syndrome. Our Facebook group founder, Amy C., started the group in 2014 with one other member from the U.K. and reached up to 100 families within the first couple years. NOW, we are at 200 families! Amazing. The community is filled with so much experiences, knowledge, and love despite all of us being located across the globe.

DYRK1A Chart

A VILLAGE

It really does take a village. I do not feel alone in this journey even though the only interaction I have had with these families are over the computer with the use of social media–with the exception of meeting the Cobb family. We all have a common goal, to raise awareness, to put ourselves out there and be known. Not even a language barrier can stop us. I can’t wait to go to the next Meet Up in 2019 and meet our growing family!

SPARK

I’ve decided to go back to school as well with our recent diagnosis of DYRK1A. I want to be able to work from home and take care of Jaxson when he ages out of school. I don’t want to have to worry about him in the future. I’m currently pursuing a degree in Medical Billing and Coding at Ultimate Medical Academy–boy it’s tough! Definitely tough trying to focus on my academics and juggle two kids but Jaxson and his brother JJ have put a spark into me. A huge spark to better myself and keep fighting.

I’ll be graduating with my degree in February 2019, if you know of any organizations or companies that need a Medical Billing and Coder please let me know!

References:

DYRK1A. (2018). Retrieved from http://www.dyrk1a.org/start-here

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July 15, 2018
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Determination

Jaxson must be hitting a growth spurt or maybe it’s because he’s been around his older cousins while on vacation. He has been watching them and chasing after every single one of them at our BBQ.

He’s literally doing so much and developing such an awesome personality.

Recently I wrote about Jaxson drinking out of a straw and how he’s taking a couple steps before going face first into the ground. Last night he amazed us at 12:30 AM–yes, you read correctly AM. Jaxson is a party animal at night.

He started to push up on his feet and STAND for maybe a couple seconds. He did this so many times last night and would laugh, smile, and flail his arms back and forth with excitement. It was such the cutest thing. He was SO pleased with himself.

We also celebrated Airway Disorder Day 2018 yesterday–Did anyone else join us? I painted my nails light blue for my little warrior and he was rocking his Lu the Lamb onesie from Coping with LM.

He has a one track mind and is very determined but it’ll definitely benefit him in the future. He’s one tough cookie that’s for sure!

July 12, 2018
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